Patient-centered precision health in a learning health care system: Geisinger’s genomic medicine experience MS Williams, AH Buchanan, FD Davis, WA Faucett, MLG Hallquist, ... Health Affairs 37 (5), 757-764, 2018 | 106 | 2018 |
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 E Sanchez, B Laplace-Builhé, FT Mau-Them, E Richard, A Goldenberg, ... Genetics in Medicine 22 (3), 547-556, 2020 | 94 | 2020 |
Practical predictive analytics and decisioning systems for medicine: Informatics accuracy and cost-effectiveness for healthcare administration and delivery including medical … GD Miner, LA Miner, M Goldstein, R Nisbet, N Walton, P Bolding, J Hilbe, ... Academic Press, 2014 | 92 | 2014 |
Genetic testing and counseling for the unexplained epilepsies: an evidence‐based practice guideline of the National Society of Genetic Counselors L Smith, J Malinowski, S Ceulemans, K Peck, N Walton, BR Sheidley, ... Journal of Genetic Counseling 32 (2), 266-280, 2023 | 81 | 2023 |
Genomic information for clinicians in the electronic health record: lessons learned from the clinical genome resource project and the electronic medical records and genomics … MS Williams, CO Taylor, NA Walton, SR Goehringer, S Aronson, ... Frontiers in genetics 10, 1059, 2019 | 56 | 2019 |
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery XA Zhang, A Yates, N Vasilevsky, JP Gourdine, TJ Callahan, LC Carmody, ... NPJ digital medicine 2 (1), 32, 2019 | 51 | 2019 |
Predicting the start week of respiratory syncytial virus outbreaks using real time weather variables NA Walton, MR Poynton, PH Gesteland, C Maloney, C Staes, JC Facelli BMC medical informatics and decision making 10, 1-9, 2010 | 51 | 2010 |
The complex genetic basis of congenital heart defects E Akhirome, NA Walton, JM Nogee, PY Jay Circulation Journal 81 (5), 629-634, 2017 | 49 | 2017 |
Practical predictive analytics and decisioning systems for medicine LA Winters-Miner, PS Bolding, JM Hilbe, M Goldstein, T Hill, R Nisbet, ... Practical predictive analytics and decisioning systems for medicine …, 2015 | 45 | 2015 |
Modeling the variations in pediatric respiratory syncytial virus seasonal epidemics M Leecaster, P Gesteland, T Greene, N Walton, A Gundlapalli, R Rolfs, ... BMC infectious diseases 11, 1-9, 2011 | 40 | 2011 |
Developing and optimizing innovative tools to address familial hypercholesterolemia underdiagnosis: identification methods, patient activation, and cascade testing for familial … G Campbell-Salome, LK Jones, MF Masnick, NA Walton, CD Ahmed, ... circulation: genomic and precision medicine 14 (1), e003120, 2021 | 35 | 2021 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology 25 (1), 53, 2024 | 33 | 2024 |
Lessons learned from the eMERGE Network: balancing genomics in discovery and practice eMERGE Consortium Human Genetics and Genomics Advances 2 (1), 100018, 2021 | 23 | 2021 |
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals SP McGrath, N Walton, MS Williams, KK Kim, K Bastola BMC health services research 19, 1-12, 2019 | 23 | 2019 |
Legal challenges in precision medicine: what duties arising from genetic and genomic testing does a physician owe to patients? SP McGrath, AE Peabody Jr, D Walton, N Walton Frontiers in Medicine 8, 663014, 2021 | 20 | 2021 |
Distal chromosome 16p11. 2 duplications containing SH2B1 in patients with scoliosis B Sadler, G Haller, L Antunes, X Bledsoe, J Morcuende, P Giampietro, ... Journal of medical genetics 56 (7), 427-433, 2019 | 20 | 2019 |
Future directions for high‐throughput splicing assays in precision medicine CL Rhine, C Neil, DT Glidden, KJ Cygan, AM Fredericks, J Wang, ... Human mutation 40 (9), 1225-1234, 2019 | 18 | 2019 |
Population screening in health systems MS Williams Annual Review of Genomics and Human Genetics 23 (1), 549-567, 2022 | 16 | 2022 |
Infant acid suppression use is associated with the development of eosinophilic esophagitis BR Kuhn, AJ Young, AE Justice, G Chittoor, NA Walton Diseases of the Esophagus 33 (10), doaa073, 2020 | 14 | 2020 |
Genomic data in the electronic health record NA Walton, DK Johnson, TN Person, S Chamala Advances in Molecular Pathology 2 (1), 21-33, 2019 | 14 | 2019 |